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25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    42394016 Congenital dysplasia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Autosomal dominant hypophosphataemic bone disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hajdu-Cheney syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    hyperphosphatasemia tarda morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cherubism with gingival fibromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Vitreoretinal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Saldino-Mainzer dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hypoplasia of right ventricular inflow tract (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Fibrous dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Progressive diaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cerebrofacial dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Cerebrofacial dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Stickler syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Hepatoportal microvascular dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hereditary mucoepithelial dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Larsen syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome oto-palato-digital type 2 (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome oto-palato-digital type 1 (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Maxillo-zygomatic dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Genochondromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata with cranial sclerosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ganglioside sialidase deficiency morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Temporo-auro-mandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    achondrogenèse type 1A (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Familial expansile osteolysis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mandibuloacral dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia, otherwise specified (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pyle metaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Infantile cortical hyperostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Carpotarsal osteochondromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    chondrodysplasie métaphysaire type Jansen (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie géléophysique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, San Diego type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Torrance type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata congenita morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasia-osteoectasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysostosis multiplex group morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal anadysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Miller syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Singleton-Merten syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Brachyolmia - Hobaek type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysosteosclerosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis/diastrophic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Worth disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acroscyphodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Epiphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with increased bone density morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    carpocyphose morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Chondrodysplasia punctata, X-linked recessive type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dyggve-Melchior-Clausen syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic dysplasia, type II (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Familial x-linked hypophosphatemic vitamin D refractory rickets morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Torg type osteolysis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Adult GM1 gangliosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Enchondromatosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondromatosis with basal ganglia calcification (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lethal retarded ossification syndromes morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Grebe syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie fronto-métaphysaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia with joint laxity morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteopoikilosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    aspartylglucosaminurie (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie thanatophore (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia, type 2 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Rolland-Debuqois syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    hyperphosphatasemia tarda morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Spondylodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Bruck syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Naso-maxillary dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Sclerosteosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteoporosis with pseudoglioma morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Robinow syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    pseudohypoparathyroïdie type 1B (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type IB morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple synostosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Juvenile GM1 gangliosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Microcephalic osteodysplastic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Osteomesopycnosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia Hunter-Thompson type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cranioectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with decreased bone density morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    chondrodysplasie métaphysaire type Schmid (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Kniest-Stickler dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia with osteopetrosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2

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